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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GYG1

Variant:p.R48T

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GYG1

NM_004130.4:p.R48T

hg38:chr3:148994277 G>C

Associated Papers

GYG1 gene mutations in a family with polyglucosan body myopathy.

Fanin M et al.

Neurology. Genetics, 2015

27066558 (PubMed )

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."